Intranuclear nemaline rod myopathy

Vassil Kaimaktchiev; Hans Goebel; Nigel Laing; Michael Narus; Douglas Weeks; Randal Nixon

doi:10.1002/mus.20521

Intranuclear nemaline rod myopathy

Vassil Kaimaktchiev, Hans Goebel, Nigel Laing, Michael Narus, Douglas Weeks, Randal Nixon

Pathology

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

Abstract

The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.

Original language	English (US)
Pages (from-to)	369-372
Number of pages	4
Journal	Muscle and Nerve
Volume	34
Issue number	3
DOIs	https://doi.org/10.1002/mus.20521
State	Published - Sep 2006

Keywords

ACTA1 mutations
Actin
Congenital myopathies
Intranuclear rod myopathy
Nemaline rod myopathy

ASJC Scopus subject areas

Physiology
Clinical Neurology
Cellular and Molecular Neuroscience
Physiology (medical)

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10.1002/mus.20521

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title = "Intranuclear nemaline rod myopathy",

abstract = "The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.",

keywords = "ACTA1 mutations, Actin, Congenital myopathies, Intranuclear rod myopathy, Nemaline rod myopathy",

author = "Vassil Kaimaktchiev and Hans Goebel and Nigel Laing and Michael Narus and Douglas Weeks and Randal Nixon",

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T1 - Intranuclear nemaline rod myopathy

AU - Kaimaktchiev, Vassil

AU - Goebel, Hans

AU - Laing, Nigel

AU - Narus, Michael

AU - Weeks, Douglas

AU - Nixon, Randal

PY - 2006/9

Y1 - 2006/9

N2 - The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.

AB - The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.

KW - ACTA1 mutations

KW - Actin

KW - Congenital myopathies

KW - Intranuclear rod myopathy

KW - Nemaline rod myopathy

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Intranuclear nemaline rod myopathy

Abstract

Keywords

ASJC Scopus subject areas

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